Facmg Li

eBook, ePUB

Cases in Laboratory Genetics and Genomics (LGG) Practice (eBook, ePUB)

Beschreibung

Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenetics and molecular genetics technologies. This entirely case-based book covers a wide range of genetic cases, from prenatal to postnatal and oncology genetic disorders which lab professionals and geneticists encounter daily in the diagnostic field. Each disorder discussed includes a section on clinical background, clinical indication, tests ordered, laboratory tests performed, test results, results with interpretations, future testing and recommendations, and references. The book will help lab professionals understand and navigate clinical cases using an integrative approach, and thoroughly understand the methodologies and interpretations involved in high complexity genetic testing. - Presents clinical cases illustrating the complexity of the genetic abnormalities and successful diagnoses - Discusses the technologies best suited to detect DNA mutations, copy number variations, and chromosome or RNA translocations - Aids lab professionals in ensuring tests ordered are optimal for clinical indications - Prepares trainees for the American Board of Medical Genetics and Genomics (ABMGG) LGG course and exam

Technische Details

• Geräte: eReader
• ohne Kopierschutz
• Größe: 47.07MB

Barrierefreiheit

• Text-to-Speech
• E-Mail des Verlags für Barrierefreiheitsfragen: [e-mail]
• E-Mail eines vertrauenswürdigen Mittlers für Barrierefreiheitsfragen: [e-mail]
• Seitennummerierung folgt dem gedruckten Werk
• Mathematische Inhalte in MathML für assistive Technologien
• Text und Medien in logischer Lesereihenfolge angeordnet
• Navigierbarer Index mit direktem Zugriff auf Indexbegriffe
• Navigierbares Inhaltsverzeichnis für direkten Zugriff auf Text und Medien
• Keine Einschränkung der Vorlesefunktionen, außer bei spezifischen Ausnahmen

Autor

Dr. Xia Li is the Scientific Medical Director of Genetics/Genomics Division at Sonora Quest Laboratories and Associate Professor of Pathology Department at University of Arizona. She received her Ph. D degree in human genetics in 1995 from Fudan University in China, and had 4 years of training in cytogenetics and molecular genetics through the program of American Board of Medical Genetics and Genomics (ABMGG). She was certified in both Molecular and Cytogenetics through ABMGG. After training, she became the Associate Director of Cytogenetics Laboratory at AmeriPath Northeast from 2010 to 2013, and the Associate Director of Cytogenetics Laboratory at Cincinnati Children's Hospital from 2013 to 2016. She joined Sonora Quest Laboratories in 2016, where she oversees the operation of the laboratory. She also participates in the teaching and training of medical students and residents. Dr. Li has been working in the field of Genetics/Genomics diagnostics for over 13 years with extensive experience in clinical diagnostics using karyotyping, FISH, PCR, microarray and NGS technologies. She has published over 50 peer-reviewed articles and owns 2 patents.

Produktdetails

• Verlag: Elsevier Science & Techn.
• Seitenzahl: 522
• Erscheinungstermin: 5. Juni 2023
• Englisch
• ISBN-13: 9780323996235
• Artikelnr.: 68178070